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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-107564045-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107564045&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "DUS4L-BCAP29",
"hgnc_id": 54422,
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001371364.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "DUS4L",
"hgnc_id": 21517,
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_181581.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "COG5",
"hgnc_id": 14857,
"hgvs_c": "c.-149G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000393603.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "COG5-congenital disorder of glycosylation",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_181581.3",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265720.8",
"protein_coding": true,
"protein_id": "NP_853559.1",
"strand": true,
"transcript": "NM_181581.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000265720.8",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181581.3",
"protein_coding": true,
"protein_id": "ENSP00000265720.3",
"strand": true,
"transcript": "ENST00000265720.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 792,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5418,
"cdna_start": null,
"cds_end": null,
"cds_length": 2379,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000393603.7",
"gene_hgnc_id": 14857,
"gene_symbol": "COG5",
"hgvs_c": "c.-149G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377228.3",
"strand": false,
"transcript": "ENST00000393603.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7127,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673665.1",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-653C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501082.1",
"strand": true,
"transcript": "ENST00000673665.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 744,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000467916.1",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
"hgvs_c": "n.15C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467916.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 588,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6828,
"cdna_start": null,
"cds_end": null,
"cds_length": 1767,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001371364.2",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358293.1",
"strand": true,
"transcript": "NM_001371364.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 588,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": null,
"cds_end": null,
"cds_length": 1767,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673757.1",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501026.1",
"strand": true,
"transcript": "ENST00000673757.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6787,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001371365.2",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-313C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358294.1",
"strand": true,
"transcript": "NM_001371365.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6749,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001371366.2",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358295.1",
"strand": true,
"transcript": "NM_001371366.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6660,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001371367.2",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-186C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358296.1",
"strand": true,
"transcript": "NM_001371367.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673720.1",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-186C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000501003.1",
"strand": true,
"transcript": "ENST00000673720.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000673780.1",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-275C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000501094.1",
"strand": true,
"transcript": "ENST00000673780.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6787,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673970.1",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-313C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000501195.1",
"strand": true,
"transcript": "ENST00000673970.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 1,
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"feature": "ENST00000673689.1",
"gene_hgnc_id": 54422,
"gene_symbol": "DUS4L-BCAP29",
"hgvs_c": "c.-558C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000501243.1",
"strand": true,
"transcript": "ENST00000673689.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": 1056,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964367.1",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
"hgvs_c": "c.-275C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634426.1",
"strand": true,
"transcript": "ENST00000964367.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001270419.2",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
"hgvs_c": "c.-125C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257348.1",
"strand": true,
"transcript": "NM_001270419.2",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855200.1",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000525259.1",
"strand": true,
"transcript": "ENST00000855200.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855201.1",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
"hgvs_c": "c.-186C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525260.1",
"strand": true,
"transcript": "ENST00000855201.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 2329,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855202.1",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
"hgvs_c": "c.-313C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525261.1",
"strand": true,
"transcript": "ENST00000855202.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855204.1",
"gene_hgnc_id": 21517,
"gene_symbol": "DUS4L",
"hgvs_c": "c.-36C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525263.1",
"strand": true,
"transcript": "ENST00000855204.1",
"transcript_support_level": null
},
{
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